Mutagenetix > Incidental Mutation

Incidental Mutation 'R2048:Ccdc63'

222203

Institutional Source

Beutler Lab

Gene Symbol

Ccdc63

Ensembl Gene

ENSMUSG00000043036

Gene Name

coiled-coil domain containing 63

Synonyms

4921511C16Rik

MMRRC Submission

040055-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R2048 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

122246115-122276143 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 122268350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058960] [ENSMUST00000128101] [ENSMUST00000128101] [ENSMUST00000132701] [ENSMUST00000132701] [ENSMUST00000152389]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000058960

SMART Domains

Protein: ENSMUSP00000050582
Gene: ENSMUSG00000043036

Domain	Start	End	E-Value	Type
coiled coil region	140	158	N/A	INTRINSIC
coiled coil region	209	285	N/A	INTRINSIC
low complexity region	308	318	N/A	INTRINSIC
coiled coil region	393	438	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000128101

Predicted Effect

probably null
Transcript: ENSMUST00000128101

Predicted Effect

probably null
Transcript: ENSMUST00000132701

Predicted Effect

probably null
Transcript: ENSMUST00000132701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146235

Predicted Effect

probably benign
Transcript: ENSMUST00000152389

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	G	9: 70,647,357 (GRCm39)	D19G	possibly damaging	Het
Adhfe1	A	G	1: 9,633,778 (GRCm39)	K342R	probably benign	Het
Adk	A	G	14: 21,368,244 (GRCm39)	N223S	probably damaging	Het
Aff4	A	G	11: 53,289,212 (GRCm39)	S454G	probably benign	Het
Ahnak	T	A	19: 8,984,420 (GRCm39)	N1901K	probably damaging	Het
Camsap1	T	C	2: 25,819,755 (GRCm39)	T1578A	probably benign	Het
Ceacam1	G	T	7: 25,176,113 (GRCm39)	S27Y	probably benign	Het
Cit	T	C	5: 116,024,872 (GRCm39)		probably null	Het
Cntn4	A	G	6: 106,414,825 (GRCm39)		probably benign	Het
Cyp2d26	A	G	15: 82,676,928 (GRCm39)		probably benign	Het
Cyp3a13	A	T	5: 137,908,237 (GRCm39)	V204E	probably damaging	Het
Cyp51	G	A	5: 4,136,636 (GRCm39)		probably benign	Het
Dipk1a	T	C	5: 108,057,886 (GRCm39)	D179G	probably damaging	Het
Epb41l4b	T	G	4: 57,142,866 (GRCm39)	E96D	probably benign	Het
Epg5	A	G	18: 78,067,202 (GRCm39)	E2221G	probably damaging	Het
Fbxo21	T	A	5: 118,146,169 (GRCm39)	N597K	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fsip1	C	A	2: 118,072,197 (GRCm39)	E195D	probably damaging	Het
Gm10152	T	C	7: 144,317,049 (GRCm39)	F35L	unknown	Het
Gtpbp6	A	C	5: 110,254,931 (GRCm39)	V87G	probably damaging	Het
Hal	A	G	10: 93,327,002 (GRCm39)	T176A	probably damaging	Het
Il12rb2	G	T	6: 67,337,529 (GRCm39)	N117K	probably benign	Het
Kalrn	A	G	16: 34,072,680 (GRCm39)	V734A	probably benign	Het
Klf7	A	G	1: 64,117,913 (GRCm39)	V228A	possibly damaging	Het
Kng1	A	G	16: 22,877,354 (GRCm39)	Y54C	probably damaging	Het
Lpcat2	T	G	8: 93,596,471 (GRCm39)	N169K	possibly damaging	Het
Magohb	A	T	6: 131,266,385 (GRCm39)	S40R	probably damaging	Het
Mgam	A	G	6: 40,633,363 (GRCm39)	D186G	possibly damaging	Het
Mycbp2	A	G	14: 103,469,960 (GRCm39)		probably null	Het
Myh15	A	G	16: 48,975,928 (GRCm39)	D1332G	probably damaging	Het
Myh9	G	A	15: 77,655,332 (GRCm39)	T1208M	possibly damaging	Het
Ncor2	C	T	5: 125,161,996 (GRCm39)	R426H	unknown	Het
Nradd	T	C	9: 110,450,697 (GRCm39)	E160G	probably benign	Het
Or10u4	G	A	10: 129,801,861 (GRCm39)	S230L	probably damaging	Het
Or2a54	T	A	6: 43,093,312 (GRCm39)	M212K	probably benign	Het
Otog	A	T	7: 45,937,063 (GRCm39)	T1591S	probably damaging	Het
Oxsr1	A	G	9: 119,076,140 (GRCm39)	S389P	probably benign	Het
Pde3a	A	G	6: 141,434,732 (GRCm39)		probably benign	Het
Pi4k2b	A	T	5: 52,905,773 (GRCm39)	I105L	probably benign	Het
Pilrb1	T	C	5: 137,853,153 (GRCm39)	R217G	possibly damaging	Het
Poteg	A	T	8: 27,946,774 (GRCm39)	I159L	probably benign	Het
Ppargc1a	A	G	5: 51,705,858 (GRCm39)	F75S	probably damaging	Het
Ptk2b	T	G	14: 66,409,954 (GRCm39)	D466A	probably benign	Het
Ptpn21	A	G	12: 98,655,785 (GRCm39)	V394A	possibly damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Shisa3	G	A	5: 67,768,651 (GRCm39)	E184K	possibly damaging	Het
Slc4a2	A	G	5: 24,636,557 (GRCm39)	H283R	probably damaging	Het
Slc9a3	A	G	13: 74,311,860 (GRCm39)	S603G	probably damaging	Het
Tas2r124	A	G	6: 132,731,858 (GRCm39)	I56V	possibly damaging	Het
Tbcd	G	T	11: 121,431,762 (GRCm39)	C470F	probably damaging	Het
Thsd1	A	G	8: 22,749,333 (GRCm39)	R674G	probably benign	Het
Zbtb11	T	A	16: 55,818,372 (GRCm39)	C599S	probably damaging	Het
Zfp541	A	G	7: 15,812,252 (GRCm39)	R302G	possibly damaging	Het

Other mutations in Ccdc63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00919:Ccdc63	APN	5	122,262,982 (GRCm39)	splice site	probably benign
IGL01660:Ccdc63	APN	5	122,249,027 (GRCm39)	missense	possibly damaging	0.81
IGL01773:Ccdc63	APN	5	122,251,208 (GRCm39)	missense	possibly damaging	0.93
IGL02341:Ccdc63	APN	5	122,251,261 (GRCm39)	missense	probably benign	0.00
IGL03030:Ccdc63	APN	5	122,260,876 (GRCm39)	missense	probably benign	0.00
IGL02991:Ccdc63	UTSW	5	122,246,275 (GRCm39)	missense	probably benign	0.10
R0267:Ccdc63	UTSW	5	122,255,107 (GRCm39)	splice site	probably benign
R0961:Ccdc63	UTSW	5	122,249,009 (GRCm39)	missense	possibly damaging	0.75
R1333:Ccdc63	UTSW	5	122,246,224 (GRCm39)	missense	probably benign	0.04
R1802:Ccdc63	UTSW	5	122,267,940 (GRCm39)	missense	probably damaging	1.00
R1999:Ccdc63	UTSW	5	122,265,628 (GRCm39)	missense	possibly damaging	0.72
R2150:Ccdc63	UTSW	5	122,265,628 (GRCm39)	missense	possibly damaging	0.72
R2350:Ccdc63	UTSW	5	122,260,948 (GRCm39)	missense	probably benign	0.04
R4049:Ccdc63	UTSW	5	122,260,813 (GRCm39)	missense	probably damaging	0.99
R5072:Ccdc63	UTSW	5	122,259,118 (GRCm39)	missense	probably benign	0.28
R5847:Ccdc63	UTSW	5	122,254,908 (GRCm39)	missense	possibly damaging	0.78
R6031:Ccdc63	UTSW	5	122,267,799 (GRCm39)	missense	possibly damaging	0.74
R6031:Ccdc63	UTSW	5	122,267,799 (GRCm39)	missense	possibly damaging	0.74
R6249:Ccdc63	UTSW	5	122,263,062 (GRCm39)	missense	probably benign	0.17
R6782:Ccdc63	UTSW	5	122,249,077 (GRCm39)	nonsense	probably null
R7073:Ccdc63	UTSW	5	122,249,073 (GRCm39)	missense	probably benign	0.00
R7250:Ccdc63	UTSW	5	122,260,906 (GRCm39)	missense	probably damaging	1.00
R7448:Ccdc63	UTSW	5	122,246,245 (GRCm39)	missense	probably benign	0.00
R7584:Ccdc63	UTSW	5	122,251,267 (GRCm39)	missense	possibly damaging	0.73
R7773:Ccdc63	UTSW	5	122,247,335 (GRCm39)	missense	probably damaging	1.00
R7856:Ccdc63	UTSW	5	122,268,006 (GRCm39)	missense	probably benign	0.00
R8114:Ccdc63	UTSW	5	122,251,244 (GRCm39)	missense	possibly damaging	0.87
R8933:Ccdc63	UTSW	5	122,251,265 (GRCm39)	missense	probably damaging	1.00
R9036:Ccdc63	UTSW	5	122,247,346 (GRCm39)	missense	probably benign	0.08
R9136:Ccdc63	UTSW	5	122,259,146 (GRCm39)	missense	probably damaging	1.00
X0028:Ccdc63	UTSW	5	122,247,238 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TGACAAGTCAAACTCGATGGAG -3'
(R):5'- AAGAAGTTCCGGTGCGATCG -3'

Sequencing Primer
(F):5'- CTCGATGGAGTAGTGTCTTACTG -3'
(R):5'- AGGGGCTCTTGTTACACCC -3'

Posted On

2014-08-25